Welcome to Entry Card of Lysosomal Disorders


Details of RareLSD ID D_1012
Primary information
Disease_IDD_1012
DiseaseNiemann-Pick disease(type B)
CategoryMucolipidosis
ENZYME LEVEL IN PATIENT (nmol/h/mg protein)0.25-0.46
M-6-Pyes
GeneSMPD1
Type of Enzymecat enz